IthaID: 2163

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Norwegian (εγδβ)0 HGVS Name: NC_000011.10:g.5228098_5358569del
Hb Name: N/A Protein Info: N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: εγδβ-thalassaemia
Allele Phenotype:(εGγAγδβ)0
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 130.47 kb
Deletion involves: βLCR, ε, , , δ, pseudo β

Other details

Type of Mutation: Deletion
Ethnic Origin: Norwegian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Brantberg A, Eik-Nes SH, Roberts N, Fisher C, Wood WG, Severe intrauterine anemia: a new form of epsilongammagammadeltabeta thalassemia presenting in utero in a Norwegian family., Haematologica , 94(8), 1157-9, 2009 PubMed
Created on 2013-09-30 10:56:31, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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